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可变剪接事件的组织特异性分析

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可变剪接是调节基因表达和产生蛋白质多样性的重要机制,研究表明单核苷酸变异能够影响基因的可变剪接。本文基于一位51岁女性23种组织的RNA-seq数据,针对可变5'剪接(A5SS)和可变3'剪接(A3SS)两种模式,应用MISO构建了 253个组织对的可变剪接数据集,同时应用Varscan 2构建了单核苷酸变异数据集(SNV_Set),分析了可变剪接位点间的距离分布、剪接位点附近SNV的分布,基于序列计算了剪接概率p,并根据p值对真实剪接位点进行了识别,对剪接概率p与剪接百分比Ψ的相关性进行了分析。结果表明,不同组织间普遍存在差异剪接事件,基于序列可以较好地识别一对可变的剪接位点。然而,Ψ与p之间,以及一对可变剪接事件△Ψ与Δp之间弱的相关性,说明完全依赖序列信息,很难根据SNV的发生,准确预测不同组织中可变剪接位点的选择。
Tissue Specific Analysis of Alternative Splicing Events
Alternative splicing is an important mechanism in regulating gene expression and gen-erating protein diversity.Studies have shown that single nucleotide variations can affect alternative splicing of genes.Based on the RNA-seq data derived from 23 tissues of a 51-year-old female,the datasets of alternative splicing events on alternative 5'splice site(A5SS)and alternative 3'splice site(A3SS)patterns were constructed using MISO.In addition,the dataset of single nucleotide vari-ation(SNV_Set)was constructed using Varscan 2.Then,we analyzed the distance distribution be-tween two alternative splicing sites and the distribution of SNVs near splice sites.Based on one-hot encoding of upstream and downstream sequence,we calculated splicing probability p of potential splicing sites to identify true alternative splicing sites in 100 bp and 700 bp regions.Finally,the cor-relation between splicing probability p and percent-spliced-in Ψ were analyzed.The results indicated that different splicing events are common in genes across different tissues.The true splicing sites can be identified according to the context sequence at splice sites.Furthermore,the weak correla-tions between Ψ and p and between Δ Ψ and Δp indicated that when SNVs occur near splice site,it is difficult to determine the selection of alternative splicing sites in different tissues only according to sequence information.

alternative splicingsingle nucleotide variationcorrelation

史悦彤、关华、高洁、方舟、刘俊杰、张利绒

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内蒙古大学物理科学与技术学院,呼和浩特 010021

可变剪接 单核苷酸变异 相关性

2024

内蒙古大学学报(自然科学版)
内蒙古大学

内蒙古大学学报(自然科学版)

CSTPCD
影响因子:0.346
ISSN:1000-1638
年,卷(期):2024.55(6)